SOX9 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the SOX9 gene.

**Synonyms:** - CMD1 Gene Mutation - CMPD1 Gene Mutation - SRA1 Gene Mutation - SRY (Sex Determining Region Y)-Box 9 (Campomelic Dysplasia, Autosomal Sex-Reversal) Gene Mutation - SRY-Box 9 Gene Mutation - SRY-Related HMG-Box Gene 9 Mutation